Canonical Allele Identifier: CA377108870

Gene: ADAMTS14

Linked Data

• MyVariant Identifiers: chr10:g.72517767G>A (hg19) ; chr10:g.70758011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70758011G>A , CM000672.2:g.70758011G>A	GRCh38
NC_000010.10:g.72517767G>A , CM000672.1:g.72517767G>A	GRCh37
NC_000010.9:g.72187773G>A	NCBI36
NG_042147.1:g.90209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373207.2:c.2987G>A MANE Select	ENSP00000362303.1:p.Arg996Lys
ENST00000373207.1:c.2987G>A	ENSP00000362303.1:p.Arg996Lys
ENST00000373208.5:c.2996G>A	ENSP00000362304.1:p.Arg999Lys
NM_080722.3:c.2987G>A	NP_542453.2:p.Arg996Lys
NM_139155.2:c.2996G>A	NP_631894.2:p.Arg999Lys
XM_011539300.1:c.2486G>A	XP_011537602.1:p.Arg829Lys
XM_011539301.1:c.2060G>A	XP_011537603.1:p.Arg687Lys
XM_011539302.1:c.2060G>A	XP_011537604.1:p.Arg687Lys
XM_011539308.1:c.*66G>A	XP_011537610.1:n.*66G>A
XM_011539309.1:c.1556G>A	XP_011537611.1:p.Arg519Lys
NM_080722.4:c.2987G>A MANE Select	NP_542453.2:p.Arg996Lys
NM_139155.3:c.2996G>A	NP_631894.2:p.Arg999Lys
XM_011539300.2:c.2486G>A	XP_011537602.1:p.Arg829Lys
XM_011539301.2:c.2060G>A	XP_011537603.1:p.Arg687Lys
XM_011539302.2:c.2060G>A	XP_011537604.1:p.Arg687Lys
XM_011539308.2:c.*66G>A	XP_011537610.1:n.*66G>A